SNP Detail For rs10512472
1.Mapping Information
Human SNP ID rs10512472
Human chromosome chr17
Human SNP position 35557785
Pig chromosome chr12
Pig SNP position 41461794
2.Annotation Information
PubMed ID22139419
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/22139419
StudyNew gene functions in megakaryopoiesis and platelet formation.
Disease/TraitPlatelet count
Initial sample47,005 European ancestry individuals, 1,661 Val Borbera individuals
Replication sampleUp to 18,838 European ancestry individuals
Region17q12
Chromosome idchr17
Chromosome position35557785
Reported geneSNORD7, AP2B1
Mapped geneSLFN14
Upstream gene id
Downstream gene id
SNP gene ids342618
Upstream gene distance
Downstream gene distance
SNP risk allelers10512472-C
SNPsrs10512472
Merged0
SNP id current10512472
Contextmissense_variant
Intergenic0
Allele frequencyNR
P value0.00000000000002
Pvalue mlog13.698970004336
P value text
Or beta3.636
%95 Ci[2.7-4.57] 10^9/l increase
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitplatelet count
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004309
Study accessionGCST001337